Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study.

Background: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder. Its cerebral form presents as a learning and behavioral disorder that, if untreated, leads to rapid neurological regression, disability, and death within 10 years of diagnosis. Therefore, the disease significantly impacts patients' quality of life, making quality of life assessment crucial for effective medical treatment and care.

Experiences of siblings of children with profound intellectual and multiple disabilities: a qualitative systematic review protocol.

Objective: The objective of this systematic review is to explore the experiences of siblings of children with profound intellectual and multiple disabilities.

Introduction: With improved life expectancy of children with profound intellectual and multiple disabilities, the research focus is on care at home and in the community. Although parents are the primary caregivers, siblings often assume the role of young caregivers, bearing the weight of caregiving responsibilities.

Experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and the experiences of their family members: a qualitative systematic review.

Objective: This review aimed to synthesize the experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and the experiences of their families.

Introduction: Leukodystrophies are metabolic diseases caused by genetic mutations. There are multiple forms of the disease, varying in age of onset and symptoms.

Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study.

Metachromatic leukodystrophy is a rare autosomal recessive disease. There are three forms of this disease, all of which result in cognitive and motor dysfunctions. Although enzyme replacement and gene therapies have been developed, they are not expected to be effective in patients with advanced diseases.

Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan.

Background: Patients with Gaucher disease (GD), a rare lysosomal storage disorder, have reduced health-related quality of life (HRQOL). A patient-reported outcome measure (PROM) for HRQOL developed for type 1 GD (GD1) is not appropriate for patients with neuronopathic GD (nGD) types 2 (GD2) and 3 (GD3). In this study, we developed a new PROM for use in all GD types.

Supporters' experiences of sensory characteristics of children with profound intellectual and multiple disabilities in after-school daycare centres: A qualitative study.

Aim: To examine how supporters working at after-school daycare centres, who are involved in the lives of children with profound intellectual and multiple disabilities in the community, pay attention to the sensory characteristics of these children and provide support.

Design: A qualitative descriptive design.

Methods: Data were collected through semi-structured interviews with 20 supporters in after-school daycare centres.

Burden of caregivers of patients with neuronopathic and non-neuronopathic Gaucher disease in Japan: A survey-based study.

Background: Gaucher disease (GD), a rare lysosomal storage disorder, is associated with considerable patient and caregiver burden. We examined the applicability of existing caregiver questionnaires and assessed the level of burden in caregivers of patients with GD.

Methods: This cross-sectional, non-interventional study was conducted in Japan.

Assessment of Characteristics of Imaging Biomarkers for Quantifying Anterior Cingulate Cortex Changes: A Twin Study of Middle- to Advanced-Aged Populations in East Asia.

: Our aim was to assess genetic and environmental effects on surface morphological parameters for quantifying anterior cingulate cortex (ACC) changes in middle- to advanced-age East Asians using twin analysis. : Normal twins over 39 years old comprising 37 monozygotic pairs and 17 dizygotic pairs underwent 3-dimensional (3D) T1-weighted imaging of the brain at 3T. Freesurfer-derived ACC parameters including thickness, standard deviation of thickness (STDthickness), volume, surface area, and sulcal morphological parameters (folding, mean, and Gaussian curvatures) were calculated from 3D T1-weighted volume images.

Experiences of patients and their family members with metachromatic leukodystrophy, adrenoleukodystrophy, and Krabbe disease: a qualitative systematic review protocol.

Objective: The objective of this review is to synthesize the experiences of patients with metachromatic leukodystrophy (MLD), adrenoleukodystrophy (ALD), and Krabbe disease and the experiences of their family members.

Introduction: MLD, ALD, and Krabbe disease are rare disorders that are classified as lysosomal storage or peroxisomal disorders, with similar presentations as leukodystrophy. As these diseases cause cognitive and neurological decline due to the progression of leukodystrophy associated with demyelination, they have significant impact on the lives of patients and their families.

Development and validation of a disease-specific quality of life scale for adult patients with Fabry disease in Japan.

Background: Fabry disease is a rare X-linked lysosomal storage disorder. It is associated with physical distress and social challenges that may affect adults differently compared to pediatric patients. However, there is no disease-specific quality of life (QOL) scale that can provide a detailed assessment of QOL for adults with Fabry disease.

Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan.

Background: Gaucher disease (GD) is a rare, autosomal recessive lysosomal storage disorder that adversely affects life expectancy and health-related quality of life (HRQOL). Although HRQOL questionnaires are available for type 1 GD, they are not suitable for patients with the neuronopathic types 2 and 3 GD who have neurological symptoms that develop during early childhood or adolescence. Here we report the development of a language-validated HRQOL questionnaire specifically for patients with neuronopathic types 2 and 3 GD in Japan, which is the first step toward HRQOL questionnaire provision for all types of GD in the future.

Translation of quality of life scale for pediatric patients with Fabry disease in Japan.

Introduction: Fabry disease is a rare, X-linked lysosomal storage disorder that begins in childhood with a wide variety of symptoms, including neuropathic pain, gastrointestinal abnormalities, and skin abnormalities. Despite the substantial impact of these symptoms on children's quality of life (QOL), systematic QOL analysis of Japanese pediatric Fabry disease patients has been limited. Therefore, to evaluate the QOL of Japanese pediatric Fabry disease patients using standardized and disease-specific scales, we used the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ), which was developed by the Fabry Outcome Survey.

Experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and the experiences of their family members: a qualitative systematic review.

Objective: The objective of this review was to investigate the experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and the experiences of their family members.

Introduction: Lysosomal storage disorders are rare diseases caused by mutations in the genes that encode proteins required for lysosomal function. The age of onset of these disorders varies from infancy to adulthood, depending on the specific disease and type.

Experiences of patients with lysosomal storage disorders treated with enzyme replacement therapy: a qualitative systematic review protocol.

Objective: The objective of the review is to investigate the experiences of patients with lysosomal storage disorders treated with enzyme replacement therapy and the experiences of their families.

Introduction: Lysosomal storage disorders are rare diseases caused by mutations in genes encoding proteins required for lysosomal function. The onset of lysosomal storage disorders vary from infancy to adulthood, depending on the specific disease and disease type.